A preterm black girl was born at 35 weeks of gestation to a healthy nonconsanguineous couple. She had a very short trunk with disproportionately long extremities, mild prognathism, low-set ears, thoracolumbar meningomyelocele, and imperforate anus. She died 45 min after birth. Roentgenograms revealed hemivertebrae, block vertebrae, severe thoracic lordosis, absent sacrum, posterior fusion of some ribs with greater distance among them in the anterior thorax, and relatively long extremities. Internal examination showed an intact meningomyelocele extending from the first thoracic vertebra to the lumbosacral region, containing 150 mL of clear fluid. The lungs were severely hypoplastic. Spondylocostal dysostosis encompasses a spectrum of vertebral abnormalities ranging from spina bifida occulta to large meningomyelocele and from mild to severe thoracic deformities that produce pulmonary hypoplasia and respiratory insufficiency. Our case is one of the most severe ever described..
- Jarcho-Levin syndrome
- Neural tube defect (NTD)
- Spina bifida
- Spondylocostal dysostosis
ASJC Scopus subject areas
- Pathology and Forensic Medicine
- Pediatrics, Perinatology, and Child Health